MCID: MTC075
MIFTS: 24

Metachromatic Leukodystrophy, Late Infantile Form

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Metachromatic Leukodystrophy, Late Infantile Form

MalaCards integrated aliases for Metachromatic Leukodystrophy, Late Infantile Form:

Name: Metachromatic Leukodystrophy, Late Infantile Form 58
Arylsulfatase a Deficiency, Late Infantile Form 58
Mld, Late Infantile Form 58

Characteristics:

Orphanet epidemiological data:

58
metachromatic leukodystrophy, late infantile form
Age of onset: Infancy; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Metachromatic Leukodystrophy, Late Infantile Form

MalaCards based summary : Metachromatic Leukodystrophy, Late Infantile Form, also known as arylsulfatase a deficiency, late infantile form, is related to metachromatic leukodystrophy and leukodystrophy. An important gene associated with Metachromatic Leukodystrophy, Late Infantile Form is ARSA (Arylsulfatase A), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include eye, and related phenotypes are dysarthria and muscle weakness

Related Diseases for Metachromatic Leukodystrophy, Late Infantile Form

Diseases in the Metachromatic Leukodystrophy family:

Metachromatic Leukodystrophy, Adult Form Metachromatic Leukodystrophy, Late Infantile Form
Metachromatic Leukodystrophy, Juvenile Form

Diseases related to Metachromatic Leukodystrophy, Late Infantile Form via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 29.9 PSAP ARSA
2 leukodystrophy 29.9 PSAP ARSA
3 metachromatic leukodystrophy, adult form 9.8 PSAP ARSA
4 metachromatic leukodystrophy, juvenile form 9.8 PSAP ARSA
5 combined saposin deficiency 9.8 PSAP ARSA
6 sandhoff disease 9.8 PSAP ARSA
7 gm2 gangliosidosis 9.8 PSAP ARSA
8 gm1 gangliosidosis 9.8 PSAP ARSA
9 krabbe disease 9.8 PSAP ARSA
10 sphingolipidosis 9.7 PSAP ARSA
11 tay-sachs disease 9.7 PSAP ARSA
12 niemann-pick disease, type c1 9.7 PSAP ARSA
13 mucolipidosis 9.7 PSAP ARSA
14 fabry disease 9.7 PSAP ARSA
15 lipid storage disease 9.6 PSAP ARSA
16 gaucher's disease 9.6 PSAP ARSA
17 lysosomal storage disease 9.5 PSAP ARSA

Graphical network of the top 20 diseases related to Metachromatic Leukodystrophy, Late Infantile Form:



Diseases related to Metachromatic Leukodystrophy, Late Infantile Form

Symptoms & Phenotypes for Metachromatic Leukodystrophy, Late Infantile Form

Human phenotypes related to Metachromatic Leukodystrophy, Late Infantile Form:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
3 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
4 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
5 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
6 toe walking 58 31 frequent (33%) Frequent (79-30%) HP:0040083
7 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
8 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
9 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
10 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
11 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
12 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
13 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
14 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
15 emg: chronic denervation signs 58 31 frequent (33%) Frequent (79-30%) HP:0003444
16 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
17 punctate periventricular t2 hyperintense foci 58 31 frequent (33%) Frequent (79-30%) HP:0030081
18 progressive peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007133
19 seizure 31 frequent (33%) HP:0001250
20 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
21 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
22 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
23 abnormality of visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0000649
24 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
25 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
26 abnormal social behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0012433
27 cholecystitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001082
28 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
29 abdominal distention 58 31 occasional (7.5%) Occasional (29-5%) HP:0003270
30 loss of speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002371
31 bilateral sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008619
32 delusions 58 31 occasional (7.5%) Occasional (29-5%) HP:0000746
33 abnormality of metabolism/homeostasis 31 occasional (7.5%) HP:0001939
34 decerebrate rigidity 58 31 very rare (1%) Very rare (<4-1%) HP:0025013
35 vegetative state 58 31 very rare (1%) Very rare (<4-1%) HP:0031358
36 seizures 58 Frequent (79-30%)
37 gait ataxia 58 Frequent (79-30%)
38 abnormality of proteoglycan metabolism 58 Occasional (29-5%)

Drugs & Therapeutics for Metachromatic Leukodystrophy, Late Infantile Form

Search Clinical Trials , NIH Clinical Center for Metachromatic Leukodystrophy, Late Infantile Form

Genetic Tests for Metachromatic Leukodystrophy, Late Infantile Form

Anatomical Context for Metachromatic Leukodystrophy, Late Infantile Form

MalaCards organs/tissues related to Metachromatic Leukodystrophy, Late Infantile Form:

40
Eye

Publications for Metachromatic Leukodystrophy, Late Infantile Form

Articles related to Metachromatic Leukodystrophy, Late Infantile Form:

# Title Authors PMID Year
1
[Metachromatic leukodystrophy (MLD), late infantile form]. 61
4754573 1973

Variations for Metachromatic Leukodystrophy, Late Infantile Form

Expression for Metachromatic Leukodystrophy, Late Infantile Form

Search GEO for disease gene expression data for Metachromatic Leukodystrophy, Late Infantile Form.

Pathways for Metachromatic Leukodystrophy, Late Infantile Form

Pathways related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 PSAP ARSA
2 10.73 PSAP ARSA

GO Terms for Metachromatic Leukodystrophy, Late Infantile Form

Cellular components related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 PSAP ARSA
2 lysosomal lumen GO:0043202 8.62 PSAP ARSA

Biological processes related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.96 PSAP ARSA
2 glycosphingolipid metabolic process GO:0006687 8.62 PSAP ARSA

Sources for Metachromatic Leukodystrophy, Late Infantile Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....